Endocrine Abstracts Search

Use the keyword text box above to search across all volumes for abstracts and authors.
You can filter the results by adjusting the search options under 'filter search results'.
Use the advanced search options to limit or expand the scope of the results found.

Showing page 1 of results 1 - 10 of about 12 pages

100% match
6 hit(s)
HTML
31kb

Frequent occurrence of DUOX2 and DUOXA2 mutations in cases with borderline bloodspot screening TSH who develop True congenital hypothyroidism
Catherine Peters; Adeline K. Nicholas; Greta Lyons; Shirley Langham; Eva G. Serra; Erik Schoenmakers; Marina Muzza; Laura Fugazz
http://www.endocrine-abstracts.org/ea/0045/ea0045oc5.7.htm
Published: 2016-11-14

100% match
6 hit(s)
HTML
34kb

Contrasting phenotypes in Resistance to Thyroid Hormone α correlate with divergent properties of thyroid hormone receptor α1 mutant proteins
Carla Moran; Maura Agostini; Anne McGowan; Erik Schoenmakers; Louise Fairall; Greta Lyons; Odelia Rajanayagam; Laura Watson; Ama
http://www.endocrine-abstracts.org/ea/0044/ea0044p241.htm
Published: 2016-10-14

100% match
6 hit(s)
HTML
31kb

Frequent Occurrence of DUOX2 and DUOXA2 Mutations in Cases with Borderline Bloodspot Screening TSH who Develop True Congenital Hypothyroidism
Catherine Peters; Adeline K Nicholas; Greta Lyons; Shirley Langham; Eva Serra; Erik Schoenmakers; Marina Muzza; Laura Fugazzola;
http://www.endocrine-abstracts.org/ea/0044/ea0044oc3.1.htm
Published: 2016-10-14

100% match
6 hit(s)
HTML
43kb

A multisystem selenoprotein disorder with a thyroid signature
Nadia Schoenmakers; Erik Schoenmakers; Maura Agostini; Catherine Mitchell; Laura Papp; Odelia Rajanayagam; Raja Padidela; Rainer
http://www.endocrine-abstracts.org/ea/0021/ea0021oc3.5.htm
Published: 2010-03-31

100% match
6 hit(s)
HTML
37kb

Growth retardation and severe constipation due to the first human, dominant negative thyroid hormone receptor α mutation
Nadia Schoenmakers; Elena Bochukova; Maura Agostini; Erik Schoenmakers; Odelia Rajanayagam; Elana Henning; Evelien Gevers; Marga
http://www.endocrine-abstracts.org/ea/0027/ea0027oc1.4.htm
Published: 2011-11-01

100% match
6 hit(s)
HTML
40kb

Growth Retardation and Severe Constipation due to the first human, dominant negative Thyroid Hormone Receptor Alpha mutation
Nadia Schoenmakers; Elena Bochukova; Maura Agostini; Erik Schoenmakers; Odelia Rajanayagam; Julia Keogh; Elana Henning; Jana Rei
http://www.endocrine-abstracts.org/ea/0028/ea0028oc1.5.htm
Published: 2012-03-01

100% match
6 hit(s)
HTML
29kb

The thyroid hormone receptor-coactivator interface mediates negative feedback regulation of the human pituitary-thyroid axis
Carla Moran; Catherine Mitchell; Maura Agostini; Erik Schoenmakers; John Gregory; Mark Gurnell; Krishna Chatterjee
http://www.endocrine-abstracts.org/ea/0028/ea0028oc1.4.htm
Published: 2012-03-01

100% match
6 hit(s)
HTML
36kb

A comprehensive next generation sequencing-based strategy for genetic diagnosis in congenital hypothyroidism
Nadia Schoenmakers; Hakan Cangul; Adeline K Nicholas; Erik Schoenmakers; Greta Lyons; Mehul Dattani; Catherine Peters; Shirley L
http://www.endocrine-abstracts.org/ea/0033/ea0033oc2.9.htm
Published: 2013-11-01

100% match
6 hit(s)
HTML
29kb

Congenital central hypothyroidism due to a TSHB mutation with uniparental inheritance
Adeline K Nicholas; Safia Jaleel; Erik Schoenmakers; Mehul Dattani; Edna Roche; V Krishna Chatterjee; Nadia Schoenmakers
http://www.endocrine-abstracts.org/ea/0036/ea0036P83.htm
Published: 2014-10-14

100% match
6 hit(s)
HTML
31kb

A novel, missense, mutation (P81R) in the TRH receptor gene in congenital central hypothyroidism
Olympia Koulouri; Adeline Nicholas; Erik Schoenmakers; Jacek Mokrosinski; Frances Lane; Trevor Cole; Jeremy Kirk; Sadaf Farooqi;
http://www.endocrine-abstracts.org/ea/0038/ea0038oc5.2.htm
Published: 2015-10-12